Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.H1366R

c.4097A>G

Surrounding Variants

1 paper

NM_001042492.3

p.H1366L

c.4097A>T

2 papers

NM_001042492.3

p.H1366Q

c.4098C>A

1 paper

NM_001042492.3

p.H1366N

c.4096C>A

1 paper

NM_001042492.3

p.H1366fs

c.4096_4097fs

1 paper

NM_001042492.3

p.C1367_L1368insFs

c.4100_4103dup4

2 papers

NM_001042492.3

p.H1366Q

c.4098C>G

4 papers

NM_001042492.3

p.C1365*

c.4095C>A

5 papers

NM_001042492.3

p.C1365_H1366insFs

c.4095_4096insTG

4 papers

NM_001042492.3

p.C1367R

c.4099T>C

1 paper

NM_001042492.3

p.C1367Y

c.4100G>A

3 papers

NM_001042492.3

p.C1367F

c.4100G>T

1 paper

NM_001042492.3

p.C1367_L1368del1

c.4101_4103delTTT